The disturbance of sex hormone secretions during the fetal life results in abnormal development of the fetal sex organs including the external genitalia. In the congenital adrenal hyperplasia, especially, the external genitalia is often virilized at birth and the clitomegaly in this disorder can be an important clue for the early diagnosis. For the normal range of the clitoral size of the Korean female... |
Neuroblastoma is one of the most common malignancy in infancy & childhood, but congenital neuroblastoma is rare. We experienced a case of congenital neuroblastoma of right posterior mediastinum without metastasis in 10-day-old female neonate. The diagnosis was established by autopsy including gross and microscopic finding. A brief review of literatures was made. |
In 110 term neonates without perinatal problems who were bom in SNUH, blood TSH levels were measured by TSH screening test for congenital hypothyroidism. The results are as follows 1) Normal TSH level was 14.8±7.8 µU/ml, 8.8±4.7 µU/ml, and 6.5±2.7 µU/ml in neonates of age 0 〜24 hours, 24—48 hours, and 48〜72 hours respectively, and all TSH values in neonates of age 48〜72 hours were... |
Congenital nephrotic syndrome is an uncommon disorder, which is caused by a heterogenous group of renal diseases with variable etiology and natural history. It may be inherited, sporadic, acquird or a part of a general malformation syndrome. This disorder has no single or pathological feature for pathognomonic finding, and there is no ultimate curative treatment except renal transplantation. We experienced a case of congenital... |
We studied the incidence of the arrhythmia in 10 children with congenitally corrected transposition of the great arteries diagnosed during the period from May 1986 to July 1987. Patient age ranged from 1 to 15 years. On the 12 leads surface electrocardiogram, there were complete atrioventricular block in one child and wide P wave in two. On the 24-hour electrocar- diogram, there were sinus... |
A clinical assessment of the 30 patients with extrahepatic biliary atresia who were admitted to the Department of Pediatrics and pediatric Surgery, Yonsei University College of Medicine from January, 1979 to January, 1987 was performed. In 21 patients who underwent hepatic portoenterostomy, the relationship between outcome and surgery was analyzed. Finally, collelations between lonterm prognosis and the histopathology of biopsied liver tissue, postoperative bile... |
In a 9/12 year old male patient, the diagnosis of a right coronary artery fistula communicating with the right ventricle was made by noninvasive technique using two dimensional enchocardiography. The diagnosis was confirmed by aortography. Surgical correction was performed and the postoper- ative course was uneventful. A brief review of literatures was made. |
A study was made on the incidence of malformation among 8959 babies delivered at Kwangju Christian Hospital during a period of three years starting from June 1983. The results are summarized as follows: 1) Of 8959 newborns 243 babies (2.7%) were found to have some form of malformation. The incidence was 3.0% for male and 2.3% for female, but no significant difference between both sexes was... |
Although perinatal diagnosis and management has been developed rapidly in recent years, congeni- tal malformations are known to have remained largely unchanged in incidence of infants being delivered. In spite of its clinical significance and physician’s every effort to exclude the possible factors of congenital malformations by perinatal care, there is still no enough statistical data of congenital malformtions in Korea. So, we surveyed to... |
We experienced a case of congenital subglottic stenosis in a male baby of 2 month old. He surffered from respiratory difficulties since 40 days after birth. Initially, he had been considered as a stridor because of the symptom of upper airway obstruction did not improved for 4 months, so we started to assess the lesion of subglottic area since 15 days after admission,... |
Congenital malformations are still one of the leading problems of neonatal death and illness. But, we have only a few data for about it, because of difficulty in the exact analysis of the incidence and etiologic factors. During the period of 6 years, between January 1980 and December 1985, a clinical study about the general incidence of congenital malformations was done on 50, 979... |
A 4 day old male patient was admitted to our hospital due to jaundice, poor feeding and abdominal distention. His clinical features and peripheral blood smear revealed congenital myeloblastic leuke- mia which confirmed by autopsy. Chromosome study showed 47, XY, +21 in Karyotype. We report this case with review of literatures. |
Congenital hepatic fibrosis is a relatively rare disease of liver in children and young adults, manifesting a heredofamilial tendency, that is characterized by hepatosplenomegaly, protal hypertension and frequent renal involvement. A generalized portal and interlobular fibrosis of liver are characteristic finding on microscopy, with relative preservation of hepatocyte and liver function. Recently, we have experienced a case of congenital hepatic fibrosis in a... |
We reviewed 24 patients with congenital hypothyroidism to observe the etiology, clinical symptoms and signs, bone age, height age, the degree of mental retardation and growth velocity after treatment form Jan. 1983 to June 1987. The results were as follows: 1) The male to female ratio was about 1:3.8. The cases diagnosed under 1 year old were only 12.5%. 2) In etiologic classification, thyroid dysgenesis... |
Congenital factor V deficiency is a rare hemorrhagic disease characterized by the various hemorr- hagic manifestations and the prologations of clotting time, prothrombin time and partial thromboplastin time. We experienced a case of congenital factor V deficiency in a 4 month-old male infant, who had suffered from the bleeding tendncy since his neonatal period. We review literatures briefly and present this case. |
Congenital absence of spleen is often associated with malpositions and malformations of other organ system such as congenital heart disease partial situs inversus, symmetric lobulation of the liver and the lungs. This is a rare syndrome but has been reported in increasing frequency in recent years. The pure congenital asplenia is a very rare disease. We experienced two cases of congenital asplenia. One is... |
Cineaortography by countercurrent injection via the radial artery was performed for the diagnosis of aortic arch anomalies in four infants with congenital heart anomalies. A patent ductus arteriosus, a hypoplastic pulmonary arteries and a normal aortic arch were demonstrated respectively by this method. The complete obstruction at the site of shunt operation for tricuspid atresia type lb was confirmed in the post operative period.... |
A clinical survey of congenital malformations was done on 36,689 infants bom at II Sin Christian Hospital between Jan. 1st 1981 and Dec. 31 1985. The results were as follows, 1) The incidence of congenital malformations in the 36,689 births was 2.7%, and the total number of malformations was 1,144 including multiple anomalies. 2) Among 18,915 male births, the... |
Recently, we experienced a case of congenital anterior urethral diverticulum in 8-month-old male infant. He had recurrent fever and urinary dribbling for 3 months. The diagnosis was based on radiologic and cystoscopic findings, and anterior urethral diverticulectomy was performed. A review of literatures was also presented briefly. |
We observed 3 cases of congenital hypothyroidism. A 43-day-old girl, a 372-month-old boy and a 5-year-old girl were presented. The causes were thyroid agenesis of case I, defective TSH receptor (suspect) of case II and undetermined in case III respectively. The diagnosis was made by clinical manifestations, thyroid function test, A brief review of literatures was made. |
A clinical study was done on 33 cases of congenital small intestinal atresia at II Sin Christian Hospital between Jan. 1979 and Dec. 1985. The following results were obtained: 1) The incidence of congenital small intestinal atresia was 1: 1509 live births and sex ratio was 1. 2: 1, male: female which was the same as the overall hospital distribution. 2) Birth weight was less than 2,500... |
This paper presents experience with 4 cases of choledochal cyst who were treated at the Dept, of Pediatrics, Catholic Medical College, from December, 1983 to February, 1985. All patients were less than 24 months of age when diagnosed, and the yongest was a 5 days of age, all of whom were female. The common presenting- symptoms in this cases were... |
A case of Klippel-Trenaunay-Weber Syndrome was presented. Patient was a 19 months old boy who was admitted with large hemangioma & hypertrophy of right leg which have been observed since birth. He also had heart murmur & abnormal echocardiographic change suggesting mitral insufficiency resulted from congenital defect and left side inguinal hernia and hydrocele. Radiologic examination revealed longer femur & tibia as well as... |
We would like to report an experience with a case of Giant Hydronephrosis due to Congenital left ureteropelvic junction obstruction in a 7 year-old boy who presented with palpable abdominal mass. The diagnosis was made through intravenous pyelogram, ultrasonogram and abdominal computerized axial tomogram. A brief review of the related literature is given. |
The association of congenital heart disease in patients with Down syndrome has been recognized for nearly 100 years. A wide variety of congenital heart diseases have been identified in these patients. This is the report of clinical evaluation of 105 patients with congenital heart disease in Down syndrome, experienced at the Seoul National University Hospital, during past 6 years from Jan. 1980... |
In 101 heart disease patients, the radionuclide angiocardiography(RNA) were performed.
Quantitation of left to right shunts were obtained by RNA and oximetry method in 41 patients simultaneously.
A comparison of the values for Qp/Qs ratio obtained by RNA & oximetry in those patients revealed a good correlation coefficient of 0.87(P |
Congenital hypertrophic pyloric stenosis is the most common intraabdominal condition requiring surgery during the first few months of life. In many cases the diagnosis can be made clinically by a history of projetile vomiting, and by palpation of a pyloric tumor. Barium study is considered necessary if the diagnosis can not be established with certainty on physical sign alone. We... |
Congenital pneumonia is the most important infectious disease in neonatal intensive care unit because congenital pneumonia observed about 7〜38% in autopsy cases of still birth and neonatal death who died a few days after birth. The pathogenetic mechanisms are followings: first, infection from aspiration of infected amniotic fluid or infected secretion of birth canal, second, infection to the damaged lung... |
Clinical data of twenty-eight children with congenital adrenal hyperplasia who were admitted to the Seoul National University Hospital from June 1979 to July 1984 were analyzed retrospectively. Male to female ratio was 1 : 1.3. The average age at diagnosis was 3.2 years, 1.3 months for eleven salt-losers and all were 3 months or younger, 4.6 years for seventeen nonsaltlosers.... |
The authors experienced a case of osteogenesis imperfecta in a 1 st day of life male patient. Characteristic findings of this disease are spontaneous fractures of bones, hypermobility of joints, otosclerosis, deafness and blue sclera. Diagnosis was confirmed by clinical symptoms and radiologic findings. Related literature was briefly reviewed. |